The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2095-2105

  Roepman, Ronald ^a   Bernoud Hubac, Nathalie ^b   Schick, Diana E ^b   Maugeri, Alessandra ^a   Berger, Wolfgang ^c   Ropers, Hans Hilger ^c   Cremers, Frans P M ^a   Ferreira, Paulo A ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; GENE PRODUCT; GUANOSINE TRIPHOSPHATASE; ISOPROTEIN; REGULATOR PROTEIN;

ANIMAL TISSUE; ARTICLE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CATTLE; CHROMOSOME 14Q; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; REGULATOR GENE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; X CHROMOSOME LINKAGE;

ANIMALIA; BOS TAURUS; STAPHYLOCOCCUS PHAGE 3A;

EID: 0034284508     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.14.2095     Document Type: Article

References (58)

1. Clinical and genetic heterogeneity in retinitis pigmentosa
2. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa
3. Apoptosis, retinitis pigmentosa, and degeneration
4. Retinitis pigmentosa. Visual loss
5. Retinitis pigmentosa and retinal oedema
6. Retinitis pigmentosa. Genetic percentages
7. Population genetic studies of retinitis pigmentosa
8. A genetic analysis of retinitis pigmentosa
9. X-linked retinitis pigmentosa
10. X-linked retinitis pigmentosa. Profile of clinical findings
11. A genetic linkage study of a kindred with X-linked retinitis pigmentosa
12. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa
13. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers
14. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
15. X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
16. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
17. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa
18. Positional cloning of the gene for X-linked retinitis pigmentosa: Homology with the guanine-nucleotide-exchange factor RCC1
19. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
20. Positional cloning of the gene for X-linked retinitis pigmentosa 2
21. New insights into genetic eye disease
22. Molecular genetics of retinitis pigmentosa
23. ABCR gene and age-related macular degeneration
24. Pathway leading to correctly folded beta-tubulin
25. The 1.7 Å crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller
26. P532, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins
27. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
28. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
29. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
30. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
31. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
32. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
33. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
34. The rod cGMP phosphodiesterase delta subunit dissociates the small GTPase Rab13 from membranes
35. Genetic linkage studies in autosomal recessive retinitis pigmentosa
36. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
37. Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by an interaction trap screen in yeast
38. Uso1 protein contains a coiled-coil rod region essential for protein transport from the ER to the Golgi apparatus in Saccharomyces cerevisiae
39. A cytoskeleton-related gene, uso1, is required for intracellular protein transport in Saccharomyces cerevisiae
40. Uso 1 protein is a dimer with two globular heads and a long coiled-coil tail
41. Genetic analysis of hook, a gene required for endocytic trafficking in Drosophila
42. Defective myosin VIIA gene responsible for Usher syndrome type 1B
43. A type VII myosin encoded by the mouse deafness gene shaker-1
44. Distinct roles of the Drosophila ninaC kinase and myosin domains revealed by systematic mutagenesis
45. Kinesin and myosin: Molecular motors with similar engines
46. Membrane tethering in intracellular transport
47. Recovery of photoreceptor outer segment length and analysis of membrane assembly rates in regenerating primate photoreceptor outer segments
48. Distinctive subtypes of bovine phospholipase C that have preferential expression in the retina and high homology to the norpA gene product of Drosophila
49. Retina-specifically expressed novel subtypes of bovine cyclophilin
50. Structural features in eukaryotic mRNAs that modulate the initiation of translation
51. Basic local alignment search tool
52. GenBank
53. Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization
54. A human retinal pigment epithelial cell line that retains epithelial characteristics after prolonged culture
55. ARPE-19, a human retinal pigment epithelial cell line with differentiated properties
56. Characterization of RanBP2-associated molecular components in the neuroretina